The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.
Drera
B
B
Ritelli
M
M
Tadini
G
G
Zoppi
N
N
Venturini
M
M
Calzavara-Pinton
P G
PG
Barlati
S
S
Colombi
M
M
D000328:Adult; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D024143:Collagen Type VII / Q000235:genetics*; D004247:DNA / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype
D064236:Cartilage Oligomeric Matrix Protein; D024143:Collagen Type VII; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D004247:DNA